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| There are many brilliant and important researchers working to overcome the various challenges raised by PMD. Some are trying to find a better way to diagnose the disease. This is especially important when you consider the fact that 25% of the PMD population are diagnosed by symptoms only and do not have any verification via known testing procedures. (Can you imagine how you would feel if you were told that your son has PMD, but yet all of his blood tests came back negative and there were no other explanations to offer?) Other researchers are trying to get myelin to form in the central nervous system of animals that have been specially bred to have a certain PMD mutation. The most popular of these test animals or "PMD mutants" (as they are called) is the RAT.
Note, this is NOT indicative of what a PMD rat looks like!
If a technique is created to successfully get enough myelin to form, then not only might we have found a CURE for PMD, but this technique could then be applied to help or cure people with any of these diseases:
Still other researchers are trying to figure out how to solve the "protein puzzle" or the proteome issue. The Human Genome project identified and sequenced almost all letters of the human DNA, but that's only the tip of the iceberg. Every gene creates a protein, and sometimes more than one. Every protein folds into a unique three-dimensional shape that is very intricate and sensitive to its function. Sometimes these proteins perform functions by combining with several other proteins that each have their own unique three-dimensional shape. Even in this age of supercomputing and technological advancement, computing power must increase to allow the scientists to work effectively with multiple 3-D models at-a-time.
Add to that the fact that PMD is a relatively unknown disease with a much smaller affected population because of poor public awareness, and that leaves the scientists with less human DNA to work with. Of the DNA they are working with that positively tests for PMD, there are over 40 documented mutations in the PLP gene. What needs to be done now is to see how each of those PLP gene mutations creates its protein, and how that protein compares to that of a normal PLP gene protein.
In no particular order, here are some of the scientists and organizations working on this amazingly complex challenge. Please help us to support them in their endeavors:
Dr. James Garbern, Wayne State University Dr. Grace Hobson, Alfred I. duPont Hospital for Children Dr. Franca Cambi, University of Kentucky Dr. Ian Duncan, University of Wisconsin
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The PMD Foundation: 1307 White Horse Rd, Ste 603, Voorhees,
NJ 08043 Tel. 609-443-9623
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